A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933774



Internal ID9988246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:35089532..35090117hg38UCSC Ensembl
Outerchr8:34947050..34947635hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736872
Supporting Variants
SamplesSSM003
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6933774
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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